Cytogenetic Abnormalities Found in Patients with Reproductive Problems

Abstract

IntroductionOne of the important causes of male infertility is aberration at the chromosomes.AimThe main purpose of this study was to determine the frequency and types of chromosomal aberration in infertile/sterile men whose samples were analyzed in the Center for Cytogenetics of Faculty of Medicine University of Sarajevo in the last four years.MethodsA total of 353 infertile/sterile men, between the ages of 22-55 years, referred for cytogenetic analysis to the Center for Genetics of Faculty of Medicine during the period 2013-2016. Karyotyping was performed on peripheral blood lymphocytes by using the Giemsa trypsin banding (GTG) technique.ResultsThe structural and numerical chromosomal aberration in infertility/ sterility of men found with the incidence of 6% (20/353). Out of the 20 patients with abnormal cytogenetic diagnosis, structural chromosome abnormalities were observed in 17 (85%) patients and 3 (15%) with numerical aberrations. The type of aberrations mostly found were Robertsonian and reciprocal translocations (35%, 35%, respectively).ConclusionsThe incidence of chromosomal abnormalities in infertile/sterile males suggests that the cytogenetics analysis is an important in male infertility, especially if it will be used for the purpose of assisted reproduction techniques.

Cytogenetic Investigation of Infertile Patients in Hungary: A 10-Year Retrospective Study

“…Non-pathological structural chromosomal abnormalities were detected in 27/869 (3.11%) control male cases and 39/1160 (3.36%) control female samples. Our results are hard to compare to previously published data due to the types and definitions of chromosomal alterations reported by others [ 11 , 24 , 25 , 26 , 27 , 28 ]. Most of the studies investigating cytogenetic cause of reproductive failure also included heterochromatic polymorphisms among chromosomal aberrations [ 11 , 24 , 25 ], while others did not include these [ 26 , 27 , 28 ].…”

“…Our results are hard to compare to previously published data due to the types and definitions of chromosomal alterations reported by others [ 11 , 24 , 25 , 26 , 27 , 28 ]. Most of the studies investigating cytogenetic cause of reproductive failure also included heterochromatic polymorphisms among chromosomal aberrations [ 11 , 24 , 25 ], while others did not include these [ 26 , 27 , 28 ]. Generally, most reports provided no clarification for the inclusion or exclusion of polymorphic variants in their study.…”

Karyotype Analysis in Infertile Men from the Center Western Brazil

“…KS affects approximately 5 to 10% of infertile men. 10,11 Ferlin et al, 20 observed a similar frequency in azoospermic Klinefelter's individuals and in individuals with severe oligozoospermia the rate was slightly higher (5%). In our study, no individuals in the oligozoospermic group were found to have KS.…”

A Novel Chromosomal Translocation Identified due to Complex Genetic Instability in iPSC Generated for Choroideremia

“…This is consistent with the aCGH array data that suggest that this translocation is balanced. Generally, balanced reciprocal translocations do not have a phenotypic effect in carriers, but they can lead to meiotic instability and thus give rise to reproductive problems, usually recurrent pregnancy loss, chromosomally abnormal offspring or infertility [50,51,52], as well as to full-term pregnancies with birth defects [53]. Parental chromosomal rearrangements have been reported in 2–5% of couples with recurrent miscarriages.…”